THE moment that a child says their first word is precious and cherished. However, when Lisburn boy Sam Henderson said "mama" for the first time on Christmas Day, just weeks ahead of his fourth birthday, it was extra special because he was born with a rare genetic condition which for some children means they may never walk or talk.
Sam, now six, was diagnosed with Angelman syndrome – Hollywood actor Colin Farrell's teenage son James also has the condition – when he was three and a half. Having defied all expectations, the Parkview Special School pupil can now say five words: mama, yeah, again, iPad and just last month he said hiya.
"Sam can navigate an iPad better than anyone I know; it's amazing how fast he learns," says his proud mum Laura. "I never thought I would hear him say my name but I will never forget the first time he said mama. It was Christmas Day last year; he just walked into the lounge, looked at me and said 'mama'". Only for my husband was there, I don’t think I would have believed it."
Sam also uses Makaton to sign and is very persuasive in letting his needs be known. "It’s five words more than we thought he would say, so we are very hopeful for his future," Laura says.
Affecting approximately one in every 25,000 people, it is estimated that there are around 350 people living with Angelman Syndrome in Ireland. There are four different types and Sam has the rarest form, which affects 5 per cent of those with the condition.
While a person with Angelman syndrome will have a near-normal life expectancy, they do have complex needs. The genetic disorder affects the nervous system; it is characterised by intellectual disability, lack of speech, sleep disturbance, seizures, impaired balance and yet, usually, a happy demeanour.
Following genetic tests and an MRI scan of his brain Sam was given the generic diagnosis of global developmental delay. However, when she encountered the term Angelman syndrome, Laura made an appointment with Sam's geneticist.
"As a learning disability nurse I must admit I had never heard of it as it's a more unusual genetic condition. It was frustrating because, as Sam was two and a half and walking, which is quite rare for Angelman syndrome, his geneticist initially ruled it out."
However, after further tests, his final diagnosis was given.
Angelman syndrome is just one of about 6,000 known genetic disorders. With one in 25 children affected by a genetic disorder, Laura will be pulling on her jeans this Friday in support of Jeans for Genes Day, the annual fundraising effort from the charity Genetic Disorders UK, which provides grants for organisations that work with families affected by genetic disorders.
Her message to other parents whose child has recently given a genetic diagnosis is "get support" and "don't lose hope". "I know at the start, I went through a bit of a grieving process for my child. But now I would say don't ever give up hope. Push them, believe in them and fight for them. There are people and organisations out there who will support you, so use them."
While there is currently no cure for Angelman syndrome, research is ongoing and a recent conference in the United States, attended by Irish star Farrell, highlighted four potential life-changing therapeutic treatments that will soon be tested.
Laura is hesitant about a "cure", however.
"I would cure his epilepsy and give him a voice, but apart from that if they did find a cure I wouldn't get it for Sam because he is the most loving, happy, adorable child and he is that way because he has Angelman syndrome. He’s an absolute sweetheart, who gives the best hugs and slobbery kisses."
An unusual symptom of Angelman syndrome is the inability to indicate pain. Sam's low muscle tone makes him susceptible to falling and Laura regularly finds herself having to explain the condition to medical professionals.
"One time Sam fell and I took him down to the hospital as I knew there was something wrong with his leg, but as he wasn't crying or in obvious pain I had to fight for them to believe me. When they eventually X-rayed him, they discovered his leg was fractured," she recalls.
Laura is passionate about changing people's attitudes towards those with disabilities.
"There was a slogan I saw online recently which said 'Don’t teach your children not to stare, teach them to say hello' and I would love to stick this on Sam's wheelchair.
“We were out recently just at the shopping centre and there was a child recently looking at Sam and his mother turned his head away from Sam. He's a big boy and he drools a lot and wears bibs. He's different, so it's natural for a child to look, but sadly it's the parents who need educated."
:: For further information visit Angelmanuk.org or Angelman.ie. Genetic Disorders UK's annual fundraising campaign Jeans for Genes Day takes place on Friday September 21. For a fundraising pack or to donate visit Jeansforgenesday.org.
